Intrafamilial variability of X-linked progressive muscular dystrophy

✍ Scribed by I. Hausmanowa-Petrusewicz; J. Borkowska

• Book ID: 104718668
• Publisher: Springer
• Year: 1978
• Tongue: English
• Weight: 387 KB
• Volume: 218
• Category: Article
• ISSN: 0340-5354
• DOI: 10.1007/bf00314717

✦ Synopsis

Four of five afflicted boys in the family K. suffer from the Becker type of dystrophy and one from a more severe type. All affected boys and their mothers, who are three sisters, have undergone clinical, electromyographic, electrocardiographic and biochemical examination; muscle biopsy was performed in some boys. This family is a rare example of the intrafamilial variability of X-linked progressive muscular dystrophy. The possible explanation of the variability observed is discussed.